adrenoleukodystrophy

Summary
Synonym
  • ALD
  • Bronze Schilder disease
  • Encephalitis periaxialis concentrica
  • Encephalitis periaxialis, Schilder's
  • Siemerling-Creutzfeldt Disease
  • X-linked adrenoleukodystrophy
  • diffuse sclerosis
  • sudanophilic cerebral sclerosis
Definition
A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
Super Class
X-linked recessive disease leukodystrophy
External Links
Disease Ontology
DOID:10588
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 20 of 92 in total
Gene ID Gene Symbol Description Source
929 CD14 CD14 molecule
952 CD38 CD38 molecule
960 CD44 CD44 molecule (IN blood group)
1103 CHAT choline O-acetyltransferase
1116 CHI3L1 chitinase 3 like 1
1118 CHIT1 chitinase 1
1120 CHKB choline kinase beta
1312 COMT catechol-O-methyltransferase
1375 CPT1B carnitine palmitoyltransferase 1B
1463 NCAN neurocan

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024